This application addresses broad Challenge Area (02) Bioethics and specific Challenge Topic, 02-HG-102 Direct to Consumer (DTC) Personal Genomics-Ethical, Legal and Social Implications Research. Completing the Human Genome and the Human HapMap Projects has enabled studies associating genetic variation with complex diseases such as various cancers, coronary artery disease, and diabetes. This has led to the emergence of direct-to-consumer testing companies offering genomic profiling to inform individuals about their risk for dozens of diseases and traits. Such testing is being offered with the assumption that identification of an increased risk could lead to preventative measures to reduce a person's risk for developing disease or to improve disease outcome. Although personalized medicine is gaining clinical and policy attention and appears to be technically feasible, little is known about the public's understanding and perceptions of such care, nor about their assessment of its risks and benefits. We are proposing a project that capitalizes on the expertise of researchers at the University of Pennsylvania to investigate public response to personalized medicine. The proposed study will take advantage of the Coriell Personalized Medicine Collaborative (CPMC) conducted at the Coriell Institute in Camden, NJ. The CPMC aims to determine the clinical utility of personalized medicine by offering participants a personalized genomic risk assessment for a variety of diseases and collecting data on health outcomes. While not a direct-to-consumer company the CPMC study offers a unique opportunity to assess the social, behavioral, and ethical implications of direct availability of personalized genomic risk assessment. The specific aims of our project are to: 1) Assess motivations and perceived utility of personalized genomic risk assessment among individuals who express interest in the CPMC;2) Explore participant understanding of their results, the use of the information, and educational needs;and 3) Develop policy recommendations for the ethical offering of personalized genomic disease risk assessment. We will use a mixed methodology for addressing these study aims. For specific aim 1, we will survey approximately 1000 individuals who register for a CPMC informed consent session, regardless of whether they actually attend or provide a sample for testing. For specific aim 2, we will interview 60 CPMC participants 3-6 months after they receive their results. For specific aim 3, we will work with members of the research-to-policy core of the Penn Center for the Integration of Genetic Healthcare Technologies (Penn CIGHT) to develop and disseminate policy recommendations for the responsible and ethical offering of genomic tests that takes into account the misperceptions, concerns, and educational needs of consumers. As direct-to-consumer genomic testing becomes more common, policies and educational materials are needed to ensure that health care consumers derive maximal benefit from this type of testing. This project will identify misperceptions, concerns and educational needs of a diverse group of health care consumers who are offered the opportunity to have genomic risk assessment. Findings from this study will be the basis of policy recommendations for the ethical offering of genomic testing directly to the consumer.